COL27A1 p.Pro705=
c.2115G>A · rs10982098 · VCV709469
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.97%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.015 | GERP -2.5, phastCons 0.001 |
| Overall | ||
| CADD | 10.02 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.97%
African / African-American · 1,478/75,008 alleles
Filtering AF
1.89%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.85%
Overall
0.105%
1,700/1,614,008 alleles · low-frequency
exomes 854/1,461,752 · genomes 846/152,256 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.97% | 51 |
| Admixed American | 0.153% | 652 |
| Remaining individualsnot grpmax-eligible | 0.152% | 658 |
| Middle Eastern | 0.066% | 1,516 |
| East Asian | 0.0245% | 4,078 |
| South Asian | 0.00769% | 13,011 |
| European (non-Finnish) | 0.0011% | 90,764 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- COL27A1
- Protein
- p.Pro705=
- Coding
- c.2115G>A
- MANE Select
- NM_032888
- dbSNP
- rs10982098
- Type
- single nucleotide variant
- Location
- chr9:114196003 (GRCh38)
- Gene constraint
- LOEUF 0.539 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 49.13
- Residue 705
- the 'triple-helical region' region; the 'disordered' region; the collagen-like 2 domain
Similar variants
- COL27A1 p.Pro705Ser Benign/Likely benign ★★ same residue
- COL27A1 p.Pro705Leu Uncertain significance ★ ⚠ same residue
- COL27A1 c.62+1G>T Likely pathogenic ★★ same type
- COL27A1 p.Arg1354Ter Pathogenic ★★ same type
- COL27A1 p.Arg707Ter Pathogenic ★★ same type
- COL27A1 p.Arg774Ter Pathogenic/Likely pathogenic ★★ same type
- COL27A1 p.Gln406Ter Pathogenic/Likely pathogenic ★★ same type
- COL27A1 p.Gly1147Ter Pathogenic/Likely pathogenic ★★ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/col27a1-p-pro705 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown